Canonical Allele Identifier: CA2065371275

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982389G= , CM000674.2:g.115982389G=	GRCh38
NC_000012.11:g.116420194G= , CM000674.1:g.116420194G=	GRCh37
NC_000012.10:g.114904577G=	NCBI36
NG_023366.1:g.299798C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5170C= MANE Select	ENSP00000281928.3:p.Leu1724=
ENST00000549786.2:c.4598C=
ENST00000648379.1:n.3538C=
ENST00000648737.1:n.4934C=
ENST00000648825.1:n.1910C=
ENST00000648916.1:n.3181C=
ENST00000649146.1:n.2413C=
ENST00000649607.1:c.3354C=
ENST00000649775.1:c.1659C=
ENST00000650226.1:c.5170C=	ENSP00000496981.1:p.Leu1724=
ENST00000281928.7:c.5170C=	ENSP00000281928.3:p.Leu1724=
ENST00000549786.1:c.534C=
ENST00000552340.1:c.202C=	ENSP00000449876.1:p.Leu68=
NM_015335.4:c.5170C=	NP_056150.1:p.Leu1724=
XM_011538080.1:c.5170C=	XP_011536382.1:p.Leu1724=
XM_011538081.1:c.5167C=	XP_011536383.1:p.Leu1723=
XM_011538082.1:c.5140C=	XP_011536384.1:p.Leu1714=
XM_011538080.2:c.5170C=	XP_011536382.1:p.Leu1724=
XM_011538081.2:c.5167C=	XP_011536383.1:p.Leu1723=
XM_011538082.2:c.5140C=	XP_011536384.1:p.Leu1714=
XM_017019090.1:c.5167C=	XP_016874579.1:p.Leu1723=
NM_015335.5:c.5170C= MANE Select	NP_056150.1:p.Leu1724=